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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRCAP

Variant:p.P2916L

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SRCAP

NM_006662.3:p.P2916L

hg38:chr16:30738787 C>T

Associated Papers

A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report.

Acosta-Paguada LF et al.

Journal of Medical Case Reports, 2025

40898267 (PubMed )

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